VPS35 mutations in Parkinson disease.

By C. Vilariño-Güell, C. Wider, O. Ross, J. Dachsel, J. Kachergus, S. Lincoln, A. Soto-Ortolaza, S. A. Cobb, Greggory J. Wilhoite, J. Bacon and 22 more. American Journal of Human Genetics, 2011

896 citations recorded by the source corpus.

Subfields: Neurology, Physiology

View Paper: https://www.semanticscholar.org/paper/bfdfcc2bf9bee52ec6751b16cbabfc0b7b792120

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Neurology

1. Edward A. Fon
2. Vincent Soubannier
3. C. X. Chen
4. Gian-Luca McLelland
5. H. McBride
6. I. Slaninová

In Physiology

1. Elaine R. Mardis
2. Edward A. Fon
3. Ayumu Sugiura
4. Vincent Soubannier
5. Gian-Luca McLelland
6. H. McBride

Citations in the corpus

• The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, positive): “For example, WES of a large pedigree identified a missense mutation in the affected individuals that also segregated with other families suffering from late-onset Parkinson disease (Vilariño-Güell et al., 2011; Zimprich et al., 2011), thus bolstering the significance of the association.”
• Past, Present, and Future of Parkinson’s Disease: A Special Essay on the 200th Anniversary of the Shaking Palsy (2017, neutral): “35 homolog (VPS35) gene as the cause of autosomaldominant PD.(162,163) The p.”
• A new pathway for mitochondrial quality control: mitochondrial‐derived vesicles (2014, background): “However, with mutations in Vps35 being recently linked to PD and Alzheimer’s disease (Vilarino-Guell et al, 2011; Zimprich et al, 2011), its role in MDV transport has emerged as an intriguing functional arc that may link defects in Vps35 with mitochondrial dysfunction.”
• Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control (2014, background): “Mounting evidence implicates the dysregulation of membrane trafficking pathways, as well as mitochondrial dysfunction, in the pathogenesis of PD. Recently, two exome sequencing analyses linked the retromer subunit Vps35 to PD (Vilarino-Guell et al, 2011; Zimprich et al, 2011).”